title: Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.
abstract: Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from the distal Xp. Linkage was found between the disease locus (OA1) and the loci DXS237 (theta max = 0.06, Zmax = 2.82), DXS278 (theta max = 0.03, Zmax = 5.27) and DXS16 (theta max = 0.10, Zmax = 2.33). The analysis of multiple informative meioses suggests that OA1 maps between DXS278/DXS237 and DXS143/DXS16. Multipoint linkage analysis slightly favours the order DXS278/DXS237-OA1-DXS16. These data refine the genetic localization of OA1 and may be useful for carrier detection in X-linked ocular albinism by DNA analysis.
authors.affiliation: The Netherlands Ophthalmic Research Institute, Amsterdam.
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: C
authors.initials: C
authors.lastname: Samanns
authors.forename: D B
authors.initials: DB
authors.lastname: Van Dorp
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
mesh_terms: D016117:Albinism, Ocular / Q000235:genetics*; D015139:Blotting, Southern; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers